A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447800



Internal ID226091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:177159286..177159358hg38UCSC Ensembl
chr3:176877074..176877146hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735017
Samples
Known GenesTBL1XR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447800
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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